Finding cures for children's genetic diseases

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Providing answers and hope to families

One of the most distressing things a parent can hear is to be told their child will lose their sight.

Your support today can help provide answers and hope to these children and their families.

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"When a child starts losing their vision, there’s so much fear. I see it in their parents’ faces. Their child’s future seems bleak". 

- Professor Robyn Jamieson, Head of the Eye Genetics Research Unit



A child losing their sight will never experience things we often take for granted.

Things like rainbows and shooting stars will only exist in their memory, and they may never see the faces of new friends before their vision fades away.

Families all across Australia and the world face this reality, and this is what led Professor Robyn Jamieson to spend her life investigating inherited blindness.

She wanted to be able to give answers to her patients, and with those answers – hope for a cure.

 


HELP KIDS SEE THE FUTURE
 

In the late ‘80s, when Professor Jamieson was just beginning her career, no one understood why children develop blinding retinal diseases. There were no proven therapies, let alone cures.
 
A breakthrough discovery of a gene defect linked to a disease was the first major clue. She realised that the
answers for her patients lay in their DNA.

“I was fascinated. I read everything I could about DNA, genes, proteins ... all giving me the vital background to the conditions I was seeing in patients in my clinic. I studied genomics, became qualified as a clinical geneticist, and also became a research scientist. All this to understand the ‘why’.”

We are now able to identify the cause - a genetic error - in the majority of cases. Robyn’s work has led to the
development of a diagnostic test, which detects a disease-causing genetic error in up to 70% of cases.
 
To date, we have been able to provide a genetic diagnosis to more than 200 children and families.
 
A genetic diagnosis is crucial. It lets a family know that there may be a risk of this condition being passed on to the next generation. Importantly, knowing the gene defect is the vital first step toward developing treatments or cures. It is essential that we identify the genetic defect in the remaining 30% of cases.
 
Together we can provide more answers. With your support, we can develop treatments.

 

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Professor Robyn Jamieson finds answers for patients with currently untreatable blindness. She hopes her work will give children and their families answers.

Read Robyn's Letter